Publications by authors named "A K Penafiel-Vicuna"
[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.].
Ana Karen Peñafiel-Vicuña Rogelio Coyata-Guzmán Anelena González Reynoso Adolfo Gonzalo Palma-Chan Ricardo Baeza-Bastarrachea
Rev Alerg Mex
April 2023
Introduction: Chronic granulomatous disease (CGD) is an inborn error of immunity, characterized by abnormal susceptibility to bacterial and fungal infections and a lack of systemic inflammatory regulation. Pathogenic variants in the CYBB gene are transmitted in an X-linked pattern of inheritance; while the pathogenic variants present in the EROS, NCF1, NCF2, NCF4, or CYBA genes are transmitted with an autosomal recessive inheritance pattern.
Objetives: To describe the clinical, immunological, and genetic characteristics of two patients with CGD and BCG infection.
Article Synopsis
- Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder that weakens the immune response to mycobacteria and can lead to severe infections, even in healthy individuals.
- A study in Mexico reviewed 22 MSMD patients from 2006 to 2021, revealing that 70% developed infections after receiving the BCG vaccine, with some also suffering from other bacterial and fungal infections.
- Genetic analysis showed 13 variants in genes associated with MSMD, primarily in IL12RB1, indicating that deficiencies in this gene are the main cause of the condition in the patients studied.